Cargando…

Adult expression of a 3q13.31 microdeletion

BACKGROUND: The emerging 3q13.31 microdeletion syndrome appears to encompass diverse neurodevelopmental conditions. However, the 3q13.31 deletion is rare and few adult cases have yet been reported. We examined a cohort with schizophrenia (n = 459) and adult control subjects (n = 26,826) using high-r...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lowther, Chelsea, Costain, Gregory, Melvin, Rebecca, Stavropoulos, Dimitri J, Lionel, Anath C, Marshall, Christian R, Scherer, Stephen W, Bassett, Anne S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4022390/ https://www.ncbi.nlm.nih.gov/pubmed/24650298 http://dx.doi.org/10.1186/1755-8166-7-23

Ejemplares similares

A rare 3q13.31 microdeletion including GAP43 and LSAMP genes
por: Gimelli, Stefania, et al.
Publicado: (2013)

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
por: Lowther, Chelsea, et al.
Publicado: (2017)

A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features
por: Molin, A-M, et al.
Publicado: (2011)

Duplication of 19q (13.2-13.31) associated with comitant esotropia: A case report
por: Feng, Yue-Lan, et al.
Publicado: (2021)

LSAMP Rearrangement in Acute Myeloid Leukemia With a Jumping Translocation Involving 3q13.31
por: Yoon, Jung, et al.
Publicado: (2021)

A Pilot Study on Collective Effects of 22q13.31 Deletions on Gray Matter Concentration in Schizophrenia
por: Liu, Jingyu, et al.
Publicado: (2012)

Genetic susceptibility to hepatocellular carcinoma in chromosome 22q13.31, findings of a genome‐wide association study
por: Wang, Zhanwei, et al.
Publicado: (2021)

Identification of recurrent 3q13.31 chromosomal rearrangement indicates LSAMP as a tumor suppressor gene in neuroblastoma
por: Martinez-Monleon, Angela, et al.
Publicado: (2023)

Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome
por: Bassett, Anne S., et al.
Publicado: (2008)

Duplication of subtelomeric regions in an adult with acute monocytic leukemia with an acquired jumping translocation involving 3q13.31-qter
por: Kjeldsen, Eigil
Publicado: (2017)

A locus for an auditory processing deficit and language impairment in an extended pedigree maps to 12p13.31-q14.3
por: Addis, L, et al.
Publicado: (2010)

A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer’s Disease in African Ancestry
por: Rajabli, Farid, et al.
Publicado: (2022)

The Effects of Divalent Cation-Chelated Prion Fibrils on the Immune Response of EOC 13.31 Microglia Cells
por: Jen, Huan-I, et al.
Publicado: (2020)

A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous family
por: Belhedi, Nejla, et al.
Publicado: (2013)

Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA
por: Shimojima, Keiko, et al.
Publicado: (2018)

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways
por: Silversides, Candice K., et al.
Publicado: (2012)

OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome
por: Uddin, Mohammed, et al.
Publicado: (2018)

2q31.1 microdeletion syndrome: case report and literature review
por: Puvabanditsin, Surasak, et al.
Publicado: (2015)

Chromosome 12q13.13q13.13 microduplication and microdeletion: a case report and literature review
por: Hu, Jie, et al.
Publicado: (2017)

Age‐Related Parkinsonian Signs in Microdeletion 22q11.2
por: Boot, Erik, et al.
Publicado: (2020)

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features
por: Mc Cormack, Adrian, et al.
Publicado: (2014)

Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA
por: Bonaglia, Maria Clara, et al.
Publicado: (2015)

A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification
por: Serpen, Jasmine Y., et al.
Publicado: (2023)

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation
por: Mandrile, Giorgia, et al.
Publicado: (2014)

22q11.2 microdeletion and increased risk for type 2 diabetes
por: Van, Lily, et al.
Publicado: (2020)

A report on seven fetal cases associated with 15q11‐q13 microdeletion and microduplication
por: Huang, Xiuzhu, et al.
Publicado: (2021)

Further characterization of the 9q31 microdeletion phenotype; delineation of a common region of overlap containing ZNF462
por: Brady, Lauren, et al.
Publicado: (2022)

KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome
por: Moreno-Igoa, María, et al.
Publicado: (2015)

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition
por: Arbogast, Thomas, et al.
Publicado: (2017)

Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions
por: Blagowidow, Natalie, et al.
Publicado: (2023)

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
por: Genesio, Rita, et al.
Publicado: (2015)

1331. Seasonality of Common Human Coronaviruses in the United States, 2014-2021
por: Shah, Melisa, et al.
Publicado: (2021)

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome
por: Luisa, Sciacca Francesca, et al.
Publicado: (2018)

Clinical applications of schizophrenia genetics: genetic diagnosis, risk, and counseling in the molecular era
por: Costain, Gregory, et al.
Publicado: (2012)

Co-occurrence of 16p13.11 microdeletion and ring chromosome 20 syndrome
por: Rodan, Lance H., et al.
Publicado: (2016)

Chromosome 15q24 microdeletion syndrome
por: Magoulas, Pilar L, et al.
Publicado: (2012)

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
por: Kashevarova, Anna A., et al.
Publicado: (2018)

A Novel de Novo 20q13.11q13.12 Microdeletion in a Boy with Neurodevelopmental Disorders − Case Report
por: Bernaciak, Joanna, et al.
Publicado: (2017)

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome
por: Muhle, Hiltrud, et al.
Publicado: (2011)

An atypical autistic phenotype associated with a 2q13 microdeletion: a case report
por: Guivarch, Jokthan, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_nmg490o2fga11vlmg3m5mn5ifh